The mildest known case of Fukuyama-type congenital muscular dystrophy

Brain and Development - Tập 28 - Trang 537-540 - 2006
Tomoyuki Akiyama1, Yoko Ohtsuka1, Tsutomu Takata1, Junri Hattori1, Yukiko Kawakita2, Kayoko Saito2
1Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Okayama 700-8558, Japan
2Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan

Tài liệu tham khảo

Saito, 2000, Haplotype–phenotype correlation in Fukuyama congenital muscular dystrophy, Am J Med Genet, 92, 184, 10.1002/(SICI)1096-8628(20000529)92:3<184::AID-AJMG5>3.0.CO;2-N Fukuyama, 1981, Congenital progressive muscular dystrophy of Fukuyama type: clinical, genetic, and pathological considerations, Brain Dev, 3, 1, 10.1016/S0387-7604(81)80002-2 Yoshioka, 1994, Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy, Am J Med Genet, 53, 245, 10.1002/ajmg.1320530309 Aida, 1996, Brain MR in Fukuyama congenital muscular dystrophy, AJNR Am J Neuroradiol, 17, 605 Murasugi, 1992, Neuroimaging study of Fukuyama type congenital muscular dystrophy (in Japanese), J Tokyo Wom Med Coll, 62, 1155 Takeda, 2003, Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development, Hum Mol Genet, 12, 1449, 10.1093/hmg/ddg153 Fukuyama, 1996, Congenital muscular dystrophies: an overview, 107 Yoshioka, 2005, Long-term prognosis of epilepsies and related seizure disorders in Fukuyama-type congenital muscular dystrophy, J Child Neurol, 20, 385, 10.1177/08830738050200041901 Ohtsuka, 2001, Spasms in clusters in epilepsies other than typical West syndrome, Brain Dev, 23, 473, 10.1016/S0387-7604(01)00289-3 Kobayashi, 2001, Clinical spectrum of epileptic spasms associated with cortical malformation, Neuropediatrics, 32, 236, 10.1055/s-2001-19117